Disease #02284 (VDDR1B (vitamin D hydroxylation-deficient rickets, type 1b (VDDR-1B)), OMIM:600081)

Official abbreviation	VDDR1B
Name	vitamin D hydroxylation-deficient rickets, type 1b (VDDR-1B)
OMIM ID	600081
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	3
Phenotype entries for this disease	3
Associated with 1 gene	CYP2R1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
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American Samoa
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Andorra
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Angola
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Belarus
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Belgium
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Benin
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Bermuda
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Bhutan
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Bolivia
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Botswana
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Bouvet Island
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Brazil
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British Indian Ocean Territory
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Brunei Darussalam
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Bulgaria
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Burkina Faso
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Burundi
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Cambodia
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Cameroon
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Canada
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Cape Verde
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Cayman Islands
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Central African Republic
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Central Europe
Chad
(Chad)
Chile
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China
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Christmas Island
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Cocos (Keeling Islands)
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Colombia
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Comoros
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Congo
(Congo)
Cook Islands
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Costa Rica
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Cote D'Ivoire (Ivory Coast)
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Croatia (Hrvatska)
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Cuba
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Cyprus
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Czech Republic
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Denmark
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Djibouti
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Dominica
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England
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Estonia
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Ethiopia
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Faroe Islands
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Fiji
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Finland
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France
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Gabon
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Gambia
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Georgia
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Germany
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Ghana
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Gibraltar
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Guam
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Guatemala
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Guinea
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Italy
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Japan
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Jordan
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Kenya
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Kiribati
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Korea
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Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
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Kuwait
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Kyrgyzstan (Kyrgyz Republic)
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Laos
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Latvia
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Lesotho
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Liberia
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Libya
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Liechtenstein
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Lithuania
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Luxembourg
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Macedonia
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Madagascar
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Malawi
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Malaysia
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Panama
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Peru
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Poland
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Polynesia, French
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Puerto Rico
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Qatar
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Reunion
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Romania
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Russia
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Russian Federation
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Saint Lucia
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Samoa
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San Marino
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Saudi Arabia
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Scotland
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Senegal
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Serbia
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Sierra Leone
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Singapore
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Slovakia (Slovak Republic)
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Slovenia
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Solomon Islands
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Soviet Union (former)
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Spain
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St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
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Sudan
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Sudan, South
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Suriname
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Swaziland
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Sweden
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Switzerland
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Syria
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Taiwan
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Tajikistan
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Tanzania
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Thailand
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Togo
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Tokelau
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Tonga
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Trinidad and Tobago
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Tunisia
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Turkey
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Turkmenistan
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Turks and Caicos Islands
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Tuvalu
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Uganda
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Ukraine
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United Arab Emirates
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United Kingdom (Great Britain)
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United States
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Uruguay
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US Minor Outlying Islands
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Uzbekistan
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Vanuatu
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Vatican City State (Holy See)
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Venezuela
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Viet Nam
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Virgin Islands (British)
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Virgin Islands (US)
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Wales
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Wallis and Futuna Islands
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Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
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Example	Matches
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3 entries on 1 page. Showing entries 1 - 3.

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How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00117372	28548312-Fam1PatII2	PubMed: Molin 2017	2-generation family, 1 affected, unaffected heterozygous carrier parents/brother	M	no	France	white	-	-	yes	25-OH-D3	VDDR1B	see paper; ...	CYP2R1	CYP2R1	1	1	Arnaud Molin
00117376	15128933-Pat	PubMed: Cheng 2004	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	?	Nigeria	-	-	-	-	-	VDDR1B	age onset 2-7y; before treatment had low normal serum calcium levels (2.00–2.32 mM; normal 2.12–2.62), low serum phosphate levels (0.84–0.87 mM; normal 0.97–1.45), elevated serum alkaline phosphatase levels (2,360–3,000 u/l; normal 100–320), serum 1alpha,25-dihydroxyvitamin D levels (137–142 pM, normal 48–182), low 25-hydroxyvitamin D levels (10–12 nM; normal 25–137)	CYP2R1	CYP2R1	1	1	Johan den Dunnen
00143833	28548312-Fam2	PubMed: Molin 2017	2-generation family, 6 affecteds (3F, 3M), unaffected heterozygous carrier parents	F;M	yes	Morocco	-	-	-	-	-	VDDR1B	see paper; ...	CYP2R1	CYP2R1	1	6	Johan den Dunnen

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